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FIGURE: 1 / 1
Immunogen sequence: MVPALRYLVG ACGRARGLFA GGSPGACGFA SGRPRPLCGG SRSASTSSFD IVIVGGGIVG LASARALILR HPSLSIGVLE KEKDLAVHQT GHNSGVIHSG IYYKPESLKA KLCVQGAALL YEYCQQKGIS YKQCGKLIVA VEQEEIPRLQ ALYEKGLQNG VPGLRLIQQE DIKKKEPYCR GLMAIDCPHT GIVDYRQVAL SFAQDFQEAG GSVLTNFEVK; Positive Samples: Mouse kidney, Mouse heart; Cellular Location: Mitochondrion
This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 2-hydroxyglutarate dehydrogenase; alpha-hydroxyglutarate oxidoreductase; alpha-ketoglutarate reductase; Duranin; FLJ12618; L-2-hydroxyglutarate dehydrogenase, mitochondrial; L-alpha-hydroxyglutarate dehydrogenase
Gene Aliases: BC016226; C14orf160; L2HGA; L2HGDH
UniProt ID: (Human) Q9H9P8, (Mouse) Q91YP0
Entrez Gene ID: (Human) 79944, (Mouse) 217666
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